Variant report

Variant	nsv980152
Chromosome Location	chr4:121807702-121817738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:121801967..121804397-chr4:121806256..121807928,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDNF-3	chr4:121817285-121817813	NONHSAT098130
2	lnc-NDNF-3	chr4:121816649-121816832	NONHSAT098130

Extended variants
information (count: 363 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534939400	chr4:121807760-121807761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368872990	chr4:121807765-121807766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573989056	chr4:121807767-121807768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2667194	chr4:121807796-121807797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562682398	chr4:121807797-121807798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185128963	chr4:121807800-121807801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189664244	chr4:121807811-121807812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199700983	chr4:121807818-121807819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377259555	chr4:121807864-121807865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565156604	chr4:121808014-121808015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527943497	chr4:121808055-121808056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548077462	chr4:121808083-121808084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558906448	chr4:121808102-121808103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560676923	chr4:121808103-121808104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561279247	chr4:121808110-121808111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34889092	chr4:121808116-121808117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199942643	chr4:121808159-121808160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549604491	chr4:121808166-121808167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183127124	chr4:121808186-121808187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532325407	chr4:121808203-121808204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188260217	chr4:121808205-121808206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565900059	chr4:121808210-121808211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191753476	chr4:121808232-121808233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111806290	chr4:121808244-121808245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554893970	chr4:121808285-121808286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183717914	chr4:121808378-121808379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550268519	chr4:121808392-121808393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536685156	chr4:121808395-121808396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377514544	chr4:121808416-121808417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55827337	chr4:121808448-121808449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112507080	chr4:121808454-121808455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375544472	chr4:121808492-121808493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187367555	chr4:121808504-121808505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55841702	chr4:121808519-121808520	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76443517	chr4:121808580-121808581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147822207	chr4:121808741-121808742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192588555	chr4:121808754-121808755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541360358	chr4:121808794-121808795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561667376	chr4:121808825-121808826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3115313	chr4:121808863-121808864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4833692	chr4:121808943-121808944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139059713	chr4:121808946-121808947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146132412	chr4:121808949-121808950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370660684	chr4:121808952-121808953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375265269	chr4:121808954-121808955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367954560	chr4:121808956-121808957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370773850	chr4:121808959-121808960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374778060	chr4:121808962-121808963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563294839	chr4:121809010-121809011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532211574	chr4:121809011-121809012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:121796800-121808400	Weak transcription	Left Ventricle	heart
3	chr4:121797000-121823800	Weak transcription	Osteobl	bone
4	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:121798800-121810600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:121798800-121814000	Weak transcription	Fetal Intestine Large	intestine
7	chr4:121799200-121811200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:121801200-121814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:121802200-121826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:121802600-121813800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:121802800-121813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:121803200-121813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:121803400-121810800	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:121803400-121813800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:121803400-121813800	Weak transcription	Pancreas	Pancrea
16	chr4:121803400-121822600	Weak transcription	Aorta	Aorta
17	chr4:121803400-121827400	Weak transcription	NHDF-Ad	bronchial
18	chr4:121804200-121822400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:121804800-121830200	Weak transcription	Fetal Heart	heart
20	chr4:121807400-121808400	Weak transcription	Fetal Lung	lung
21	chr4:121807400-121813800	Weak transcription	Ovary	ovary
22	chr4:121808400-121808600	Enhancers	Left Ventricle	heart
23	chr4:121808400-121808600	Enhancers	Psoas Muscle	Psoas
24	chr4:121808600-121810600	Weak transcription	Left Ventricle	heart
25	chr4:121808600-121810800	Weak transcription	Psoas Muscle	Psoas
26	chr4:121808800-121811000	Weak transcription	Fetal Lung	lung
27	chr4:121810800-121811000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:121810800-121811600	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr4:121810800-121812800	ZNF genes & repeats	Psoas Muscle	Psoas
30	chr4:121811000-121811200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr4:121811000-121811200	ZNF genes & repeats	Fetal Lung	lung
32	chr4:121811200-121811400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:121811200-121813600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:121811200-121813600	Weak transcription	Fetal Lung	lung
35	chr4:121811200-121813800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:121811200-121824600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:121811400-121813800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:121812000-121831000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:121812000-121839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:121812400-121836600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:121812600-121813800	Weak transcription	Right Ventricle	heart
42	chr4:121812800-121813200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:121812800-121823000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:121812800-121824400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:121812800-121839800	Weak transcription	Psoas Muscle	Psoas
46	chr4:121813000-121813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:121813000-121824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:121813000-121837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:121813200-121824000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:121813400-121814600	ZNF genes & repeats	Fetal Muscle Leg	muscle

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